Variant Details for SLFN13
Basic Information Top
| Gene Symbol: | SLFN13 ( DKFZp666J196,DKFZp686I026,FLJ31952,SLFN10 ) |
|---|---|
| Gene Full Name: | schlafen family member 13 |
| Band: | 17q12 |
| Quick Links | Entrez ID:146857; OMIM: NA; Uniprot ID:SLN13_HUMAN; ENSEMBL ID: ENSG00000154760; HGNC ID: 26481 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 6 | 1 | 0 | 1 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002131 | 17 | 17q12 | 33684035 | 33768199 | 84164 | loss | external link | Pinto, 2010 |
| AutCNV0001349 | 17 | 17q12 | 33684035 | 33768199 | 84164 | loss | external link | Pinto, 2010 |
| AutCNV0000914 | 17 | 17q12 | 33684035 | 33768199 | 84164 | loss | external link | Pinto, 2010 |
| AutCNV0002933 | 17 | 17q12 | 33684035 | 33768199 | 84164 | loss | external link | Pinto, 2010 |
| AutCNV0002133 | 17 | 17q12 | 33684035 | 33768199 | 84164 | loss | external link | Pinto, 2010 |
| AutCNV0002132 | 17 | 17q12 | 33684035 | 33768199 | 84164 | loss | external link | Pinto, 2010 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 33768288 | G | A | c.2020C>T | p.Arg674Cys | Not_tested | neutral | 0.2182 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 33771996 | G | A | Y | Cukier HN, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||